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Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
Putnam EA, Zhang H, Ramirez F, Milewicz DM. Putnam EA, et al. Nat Genet. 1995 Dec;11(4):456-8. doi: 10.1038/ng1295-456. Nat Genet. 1995. PMID: 7493032
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Ad├Ęs LC, Milewicz DM. Gupta PA, et al. Among authors: putnam ea. Hum Mutat. 2002 Jan;19(1):39-48. doi: 10.1002/humu.10017. Hum Mutat. 2002. PMID: 11754102
Profibrillin-1 maturation by human dermal fibroblasts: proteolytic processing and molecular chaperones.
Wallis DD, Putnam EA, Cretoiu JS, Carmical SG, Cao SN, Thomas G, Milewicz DM. Wallis DD, et al. Among authors: putnam ea. J Cell Biochem. 2003 Oct 15;90(3):641-52. doi: 10.1002/jcb.10657. J Cell Biochem. 2003. PMID: 14523997 Free PMC article.
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM. Park ES, et al. Among authors: putnam ea. Am J Med Genet. 1998 Jul 24;78(4):350-5. Am J Med Genet. 1998. PMID: 9714438
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Putnam EA, et al. Am J Med Genet. 1996 Mar 29;62(3):233-42. doi: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882780
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.
Putnam EA, Park ES, Aalfs CM, Hennekam RC, Milewicz DM. Putnam EA, et al. Am J Hum Genet. 1997 Apr;60(4):818-27. Am J Hum Genet. 1997. PMID: 9106527 Free PMC article.
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues.
Hecht JT, Deere M, Putnam E, Cole W, Vertel B, Chen H, Lawler J. Hecht JT, et al. Matrix Biol. 1998 Aug;17(4):269-78. doi: 10.1016/s0945-053x(98)90080-4. Matrix Biol. 1998. PMID: 9749943
An experimental model of human chondrocyte differentiation.
Horton WA, Machado MA, Ellard J, Campbell D, Putnam EA, Aulthouse AL, Sun X, Sandell LJ. Horton WA, et al. Among authors: putnam ea. Prog Clin Biol Res. 1993;383B:533-40. Prog Clin Biol Res. 1993. PMID: 8115370 No abstract available.
Autocrine growth stimulation by transforming growth factor-alpha in human non-small cell lung cancer.
Putnam EA, Yen N, Gallick GE, Steck PA, Fang K, Akpakip B, Gazdar AF, Roth JA. Putnam EA, et al. Surg Oncol. 1992 Feb;1(1):49-60. doi: 10.1016/0960-7404(92)90056-q. Surg Oncol. 1992. PMID: 1341235
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly.
Guala A, Danesino C, Milewicz DM, Putnam EA, Franceschini P. Guala A, et al. Among authors: putnam ea. Genet Couns. 2000;11(1):57-8. Genet Couns. 2000. PMID: 10756430 No abstract available.
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